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Details for ADGRV1:c.6317C>T,

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
89981639	90685822

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.6317C>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0018	0.0045	0.0014	0.001	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001446	0.005364	0.000499	9.952e-05	0.003624	0.0	0.001556	0.0003334	0.0004921

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.262717	Polymorphism

DBSNP ID

1 combination linked to ADGRV1:c.6317C>T,

1 disease linked to ADGRV1:c.6317C>T,

Rare genetic deafness

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